SNPMiner Trials by Shray Alag

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SNPMiner SNPMiner Trials (Home Page)


Report for Mutation A1298C

Developed by Shray Alag, 2020-2021.
SNP Clinical Trial Gene

There are 8 clinical trials

Clinical Trials


1 The Role of Prothrombin Gene and Methylenetetrahydrofolate Reductase(MTHFR) Gene Polymorphisms as Risk Factors for Recurrent Miscarriage

Recurrent miscarriage is a pregnancy loss before 20 weeks of gestation. The recurrent pregnancy loss(RPL) usually occurring in the first trimester of gestation and its rate is quite high (15-20% even in full reproductive period) . In 2012, the American Society for Reproductive Medicine Practice Committee issued a statement that defined recurrent pregnancy loss as a disease distinct from infertility defined by two or more failed consecutive pregnancies.approximately 40% of couples will have an etiology identified that could be associated with their loss.

NCT03209063
Conditions
  1. Recurrent Miscarriage
Interventions
  1. Diagnostic Test: polymerase chain reaction
MeSH:Abortion, Spontaneous Abortion, Habitual
HPO:Spontaneous abortion

40% of couples will have an etiology identified that could be associated with their loss.Thrombophilia is the tendency to develop thromboses due to inherited defects in the coagulation system.Thrombophilia was identified as a major cause of RPL,Because pregnancy is a hypercoagulable state, thromboembolism is the leading cause of antepartum and postpartum maternal mortality .The four most common genetic markers for thrombophilia are; prothrombin gene mutation(FII, G20210A), methylene tetra hydrofolate reductase mutations (MTHFR ,C677T and A1298C), factor V Leiden (FVL, G1691A) , and plasminogen activator inhibitor 1 (PAI-1) . --- G20210A --- --- C677T --- --- A1298C ---

Primary Outcomes

Description: using polymerase chain reaction Polymerase chain reaction

Measure: The study will compare the percentage of prothrombin gene and MTHFR gene polymorphisms in cases with recurrent miscarriage and healthy control group.

Time: 2 days

2 A Retrospective Cohort Study: Influence of MTHFR C677T and A1298C Polymorphisms on the Survival of Pediatric Patients With Non-Hodgkin's Lymphoma

The primary purpose of this retrospective study was to investigate the influence of methylenetetrahydrofolate reductase (MTHFR) C677T/A1298C polymorphism on the survival of pediatric patients with Non-Hodgkin lymphoma (NHL) treated with modified NHL-BFM95 protocol in south China.

NCT04469543
Conditions
  1. Pediatric Non-Hodgkin Lymphoma
MeSH:Lymphoma Lymphoma, Non-Hodgkin
HPO:Lymphoma Non-Hodgkin lymphoma

A Retrospective Cohort Study: Influence of MTHFR C677T and A1298C Polymorphisms on the Survival of Pediatric Patients With Non-Hodgkin's Lymphoma. --- C677T --- --- A1298C ---

A Retrospective Cohort Study: Influence of MTHFR C677T and A1298C Polymorphisms on the Survival of Pediatric Patients With Non-Hodgkin's Lymphoma The primary purpose of this retrospective study was to investigate the influence of methylenetetrahydrofolate reductase (MTHFR) C677T/A1298C polymorphism on the survival of pediatric patients with Non-Hodgkin lymphoma (NHL) treated with modified NHL-BFM95 protocol in south China. --- C677T --- --- A1298C ---

Primary Outcomes

Description: Overall survival time was calculated from the time of initial diagnosis to death

Measure: Death

Time: About six years

Description: Event-free survival (EFS) time was calculated from the time of initial diagnosis to first event.

Measure: Events including progression, relapse, and secondary cancer

Time: About six years

3 Investigating the Involvement of ACE and Angiotensinogen Genes' Polymorphism Along With Other Thrombophilic Genotypes in Severe Forms of COVID-19 With/Without Thrombotic Events

An estimated 22% of the global population is at an increased risk of a severe form of COVID-19, while one in four coronavirus patients admitted to intensive care unit will develop a pulmonary embolism. A major public health question remains to be investigated: why COVID-19 is mild for some, critically severe for others and why only a percentage of COVID-19 patients develop thrombosis, despite the disease's proven hypercoagulable state? Patients' intrinsic characteristics might be responsible for the deep variety of disease forms. Our study aims to assess the validity of the hypothesis according to which underlining genetic variations might be responsible for different degrees of severity and thrombotic events risks in the novel coronavirus disease. Moreover, we suspect that prothrombotic genotypes occuring in the genes that encode angiotensin-converting enzyme (ACE-DEL/INS) and angiotensinogen (AGT M235T) are involved in the unpredictable evolution of COVID-19, both in terms of severity and thrombotic events, due to the strong interactions of SARS-CoV-2 with the renin-angiotensin-aldosterone system (RAAS). Therefore, we also aim to assess the validity of the theory according to which there is a pre-existing atypical modulation of RAAS in COVID-19 patients that develop severe forms and/or thrombosis. Our hypothesis is based on various observations. Firstly, there is a substantial similarity with a reasonably related condition such as sepsis, for which there is a validated theory stating that thrombophilic mutations affect patients' clinical response. Secondly, racial and ethnic genetic differences are responsible for significant dissimilar thrombotic risks among various nations. Thirdly, an increase in stroke incidence has been reported in young patients with COVID-19, without essential thrombosis risk factors, favoring the idea that a genetic predisposition could contribute to increase the thrombotic and thromboembolic risk. Fourthly, the plasminogen activator inhibitor (PAI)-1 4G/5G inherited mutation was found to be responsible for a thrombotic state causing post-SARS osteonecrosis.

NCT04519398
Conditions
  1. Covid19
  2. Corona Virus Infection
  3. Thrombosis
  4. ARDS
  5. Thrombophilia
  6. Thromboses, Intracranial
  7. Thromboses, Deep Vein
  8. RAAS
Interventions
  1. Genetic: Complete thrombophilic profile testing by multiplex PCR
MeSH:Coronavirus Infections Severe Acute Respiratory Syndrome Intracranial Thrombosis Thrombosis Venous Thrombosis Thrombophilia
HPO:Deep venous thrombosis Hypercoagulability Venous thrombosis

Inclusion Criteria: - All hospitalized patients with cough, fever, myalgia - with confirmed COVID-19 infection • All patients with a positive SARS-CoV-2 PCR test Exclusion Criteria: - Patient refusal - Uncertain tests results - Children Inclusion Criteria: - All hospitalized patients with cough, fever, myalgia - with confirmed COVID-19 infection • All patients with a positive SARS-CoV-2 PCR test Exclusion Criteria: - Patient refusal - Uncertain tests results - Children Covid19 Corona Virus Infection Thrombosis ARDS Thrombophilia Thromboses, Intracranial Thromboses, Deep Vein RAAS Coronavirus Infections Severe Acute Respiratory Syndrome Intracranial Thrombosis Thrombosis Venous Thrombosis Thrombophilia The study's protocol will cover the following steps: • Collected data from COVID-19 patients at admission will include: - Descriptive general demographic data - Previous pathologies and thrombosis risk factors - Routine biological data (the blood routinely collected will also be used for SARS-Cov-2 specific RT-PCR exam) Complete thrombophilic profile testing by multiplex PCR and reverse hybridization of DNA to assess the presence of prothrombotic genotypes: - Factor V Leiden - Factor V 4070 A G (Hr2) - Factor II G20210A - Methylenetetrahydrofolate reductase (MTHFR) C677T - MTHFR A1298C - Cystathionine β-synthase (CBS) 844ins68 - PAI-1 4G/5G - Glycoprotein IIIa T1565C (HPA-1a/b) - ACE-DEL/INS - Apolipoprotein E (ApoE) - AGT M235T - Angiotensin II type 1 receptor (ATR-1) A1166C - Fibrinogen - 455 G A - Factor XIII Val34Leu SpO2, respiratory rate, PaO2/FiO2 RAAS components - Imagistic procedures (chest X-ray or CT) - All patients with a positive SARS-CoV-2 PCR test will be included - Patients will be divided into three groups depending on disease severity and the presence of thrombotic state: - 1st group includes COVID-19 patients with proved - venous thrombosis (deep vein thrombosis, pulmonary embolism or venous thrombosis occurring in more atypical places such as in the veins of the brain, liver, kidney, mesenteric vein and the veins of the arms) - or arterial thrombosis (heart attacks, strokes) - 2nd group encompasses asymptomatic patients and those with mild or moderate disease, according to current guidelines, without thrombosis: no symptoms or evidence of lower respiratory disease by clinical assessment or imaging and a SpO2 ≥ 94% - 3rd group includes severe disease, according to current guidelines, without thrombosis: respiratory frequency > 30 breaths per minute, SpO2 < 94%, PaO2/FiO2 < 300 mmHg, or lung infiltrates >50% - Statistical methods will be employed to check for significant differences between prothrombotic mutations frequency and RAAS components levels for the three groups --- G20210A --- --- C677T --- --- A1298C ---

Primary Outcomes

Description: The difference of prothrombotic genotypes frequency between the three groups

Measure: Number of patients with thrombophilic profile alterations

Time: One year

Secondary Outcomes

Description: The differences of RAAS components levels between the three groups

Measure: Number of patients with RAAS components alterations

Time: One year

4 Association of the C677T and A1298C MTHFR Polymorphisms With Chemotherapy Effectiveness Among Patients With Metastatic Colorectal Cancer

Fluoropyrimidines are the backbone of chemotherapy regimes used to treat metastatic colorectal cancer (CRC). These drugs act in different pathways of folate metabolism altering DNA synthesis mainly by inhibition of the tymidylate synthase. For this reaction the 5,10-methylenetetrahydrofolate acts as cofactor. It has been demonstrated that A1298C and C677T polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene result in reduced enzyme activity that leads to reduced availability of this important cofactor. Hence, we hypothesized that the presence of these polymorphisms are related to the efficacy and toxicity of fluoropyrimidines in patients with CRC.

NCT03852290
Conditions
  1. Colon Cancer
  2. MTHFR Gene Mutation
  3. Chemotherapeutic Toxicity
  4. Chemotherapy Effect
MeSH:Colonic Neoplasms
HPO:Colon cancer Neoplasm of the colon

Association of the C677T and A1298C MTHFR Polymorphisms With Chemotherapy Effectiveness Among Patients With Metastatic Colorectal Cancer. --- C677T --- --- A1298C ---

C677T and A1298C MTHFR Polymorphisms and Fluoropyrimidine Effectiveness in Metastatic Colon Cancer Fluoropyrimidines are the backbone of chemotherapy regimes used to treat metastatic colorectal cancer (CRC). --- C677T --- --- A1298C ---

It has been demonstrated that A1298C and C677T polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene result in reduced enzyme activity that leads to reduced availability of this important cofactor. --- A1298C ---

Assessment of C677T and A1298C MTHFR polymorphisms and overall survival. --- C677T --- --- A1298C ---

Assessment of C677T and A1298C MTHFR polymorphisms and progression-free survival. --- C677T --- --- A1298C ---

Assessment of C677T and A1298C MTHFR polymorphisms and response rate. --- C677T --- --- A1298C ---

Prospective assessment of toxicity according to the National Cancer Institute Common Toxicity Criteria (NCI-CTC) 4.0 criteria according to the C677T and A1298C polymorphisms. --- C677T --- --- A1298C ---

Primary Outcomes

Description: Overall survival

Measure: Assessment of C677T and A1298C MTHFR polymorphisms and overall survival

Time: From the start date of treatment until the date of death from any cause, assessed up to 24 months

Description: Progression-Free survival

Measure: Assessment of C677T and A1298C MTHFR polymorphisms and progression-free survival

Time: From the start date of treatment until the date of first documented progression or date of death from any cause, whichever came first, assessed up to 24 months

Description: Response rate

Measure: Assessment of C677T and A1298C MTHFR polymorphisms and response rate

Time: From the start date of treatment until the first radiological or clinical assessment, up to 6 months.

Secondary Outcomes

Description: Prospective assessment of toxicity according to the National Cancer Institute Common Toxicity Criteria (NCI-CTC) 4.0 criteria according to the C677T and A1298C polymorphisms

Measure: Assessment of C677T and A1298 MTHFR polymorphisms and toxicity

Time: From treatment initiation to detected toxicity during treatment with any fluoropyrimidine alone or in combination with oxaliplatin, irinotecan or any biological treatment as first line therapy of colorectal metastatic cancer (up to 24 months)

5 A Retrospective Cohort Study: The Influence of MTHFR C677T and A1298C on the High-dose Methotrexate-Related Toxicities in Pediatric Patients With Non-Hodgkin Lymphoma

We hypothesized that polymorphism MTHFR C677T and A1298C should be associated with HD-MTX-related toxicities in children with NHL. Therefore, we aimed to retrospectively explore their relationships in this analysis.

NCT04283955
Conditions
  1. Pediatric NHL
Interventions
  1. Drug: High-dose MTX based chemotherapy
MeSH:Lymphoma, Non-Hodgkin
HPO:Non-Hodgkin lymphoma

A Retrospective Cohort Study: The Influence of MTHFR C677T and A1298C on the High-dose Methotrexate-Related Toxicities in Pediatric Patients With Non-Hodgkin Lymphoma. --- C677T --- --- A1298C ---

A Retrospective Cohort Study: The Influence of MTHFR C677T and A1298C on the High-dose Methotrexate-Related Toxicities in Pediatric Patients With Non-Hodgkin Lymphoma We hypothesized that polymorphism MTHFR C677T and A1298C should be associated with HD-MTX-related toxicities in children with NHL. --- C677T --- --- A1298C ---

A Retrospective Cohort Study: The Influence of MTHFR C677T and A1298C on the High-dose Methotrexate-Related Toxicities in Pediatric Patients With Non-Hodgkin Lymphoma We hypothesized that polymorphism MTHFR C677T and A1298C should be associated with HD-MTX-related toxicities in children with NHL. --- C677T --- --- A1298C --- --- C677T --- --- A1298C ---

We recorded the toxicities that occurred to the patients after the MTX infusion, including hematological suppression, hepatotoxicity, nephrotoxicity, oral mucositis, vomiting and diarrhea.. Inclusion Criteria: patients who were: - Aged ≤ 18 years old; - Diagnosed as the four main types of NHL, including lymphoblastic lymphoma (LBL), Burkitt's lymphoma (BL), anaplastic large cell lymphoma (ALCL), diffuse large B-cell lymphoma (DLBCL); - Treated with HD-MTX therapy at the dose of 5g/m2; - Genotyped by PCR following Sanger with respect to MTHFR C677T and A1298C - With complete medical records. --- C677T --- --- A1298C ---

Exclusion Criteria: patients who were: - Aged >18 years old; - Diagnosed as cancer types other than the four main types of NHL; - Treated with no HD-MTX therapy or at the dose other than 5g/m2; - Not genotyped by PCR following Sanger with respect to MTHFR C677T and A1298C - With incomplete medical records . --- C677T --- --- A1298C ---

Inclusion Criteria: patients who were: - Aged ≤ 18 years old; - Diagnosed as the four main types of NHL, including lymphoblastic lymphoma (LBL), Burkitt's lymphoma (BL), anaplastic large cell lymphoma (ALCL), diffuse large B-cell lymphoma (DLBCL); - Treated with HD-MTX therapy at the dose of 5g/m2; - Genotyped by PCR following Sanger with respect to MTHFR C677T and A1298C - With complete medical records. --- C677T --- --- A1298C ---

The most two extensively studied SNPs of MTHFR in relation to the toxicities of MTX are the C677T variant (Ala222Val, rs1801133) and A1298C variant (Glu 429Ala, rs1801131), both dampening the enzyme activity by 40-70%. --- C677T --- --- Ala222Val --- --- A1298C ---

Therefore, the aim of this retrospective study was to evaluate the influence of C677T and A1298C polymorphisms on HD-MTX-related toxicities in children with NHL treated according to BFM-modified protocols. --- C677T --- --- A1298C ---

Primary Outcomes

Description: We recorded the toxicities that occurred to the patients after the MTX infusion, including hematological suppression, hepatotoxicity, nephrotoxicity, oral mucositis, vomiting and diarrhea.

Measure: Observations of HD-MTX-related toxicities

Time: 3 weeks

6 The Effect of Flaxseed Oil Supplementation on Biomarkers, Quality of Life and Cognitive Function in Hypertensive and Dyslipidemic Subjects With or Without the C677T and A1298C Polymorphisms in MTHFR Gene in Different Municipalities of Rio de Janeiro

The purpose of this study is to evaluate the effect of supplementation with flaxseed oil combined with a nutritional counseling in reducing cardiovascular risk factors in homocysteine , biomarkers of inflammation, oxidative stress, improving quality of life and cognitive decline in hypertensive and dyslipidemic genotyped for the C677T and A1298C polymorphisms of methylenetetrahydrofolate reductase gene.

NCT01604681
Conditions
  1. Hypertension
  2. Dyslipidemia
Interventions
  1. Dietary Supplement: Placebo
  2. Dietary Supplement: Flaxseed Oil
MeSH:Dyslipidemias
HPO:Abnormal circulating lipid concentration

The Effect of Flaxseed Oil Supplementation on Biomarkers, Quality of Life and Cognitive Function in Hypertensive and Dyslipidemic Subjects With or Without the C677T and A1298C Polymorphisms in MTHFR Gene in Different Municipalities of Rio de Janeiro. --- C677T --- --- A1298C ---

Supplementation With Flaxseed Oil in the State of Rio de Janeiro The purpose of this study is to evaluate the effect of supplementation with flaxseed oil combined with a nutritional counseling in reducing cardiovascular risk factors in homocysteine , biomarkers of inflammation, oxidative stress, improving quality of life and cognitive decline in hypertensive and dyslipidemic genotyped for the C677T and A1298C polymorphisms of methylenetetrahydrofolate reductase gene. --- C677T --- --- A1298C ---

To evaluate the effect of nutritional counseling associated with linseed oil supplementation on biomarkers estutados according to the C677T and A1298C polymorphisms of the MTHFR gene.. Cognitive decline. --- C677T --- --- A1298C ---

Our goal is to evaluate the effect of supplementation with flaxseed oil combined with nutritional counseling in reducing cardiovascular risk factors in homocysteine, biomarkers of inflammation, oxidative stress, improving quality of life and cognitive decline in hypertensive individuals dyslipidemic and genotyped for polymorphisms C677T and A1298C methylenetetrahydrofolate reductase gene (MTFHR). --- C677T --- --- A1298C ---

Will be collecting information on the socio-economic status of study participants through a structured questionnaire will be carried out assessment of food consumption - frequency of consumption and 24 hours, clinic - blood pressure, anthropometric - height, weight, waist circumference and BMI, body composition - bioelectrical impedance analysis, biochemical tests - lipid profile, blood glucose, insulin, homocysteine, serum folate concentrations in erythrocytes and, cobalamin, vitamin C, E and A, minerals - zinc, iron, copper and selenium, markers of oxidative stress and inflammatory response and molecular analysis - C677T and A1298C polymorphisms of methylenetetrahydrofolate reductase gene. --- C677T --- --- A1298C ---

Our results demonstrate the effectiveness of supplementation with flaxseed oil, in reinforcing the results of nutritional counseling in reducing cardiovascular risk factors and biomarkers studied, besides adding to the knowledge about the interactions between markers of inflammation, oxidative stress with oil supplementation flaxseed and polymorphisms C677T and A1298C MTHFR gene, on which there are no reports in the literature. --- C677T --- --- A1298C ---

Primary Outcomes

Description: To evaluate the effect of nutritional counseling associated with linseed oil supplementation on biomarkers estutados according to the C677T and A1298C polymorphisms of the MTHFR gene.

Measure: Polymorphisms

Time: Up to 3 months

Secondary Outcomes

Description: To evaluate the effect of nutritional counseling associated with linseed oil supplementation on cognitive decline.

Measure: Cognitive decline

Time: Up to 3 months

Description: To evaluate the effect of nutritional counseling associated with linseed oil supplementation on Quality of life.

Measure: Quality of life

Time: Up to 3 months

Description: To evaluate the effect of nutritional counseling associated with linseed oil supplementation on biomarkers of oxidative stress.

Measure: Oxidative stress

Time: Up to 3 months

Description: To investigate the effect of supplementation of flaxseed oil combined with nutritional guidance on lipid profile, according to the consumption of saturated fat.

Measure: Lipid profile

Time: Up to 3 months

7 Clinical Response and Homocysteine Reduction Using Reduced B-Vitamin Therapy in MTHFR C677T/A1298C Patients With Major Depressive Disorder : an Analysis of Findings

A randomized double-blind placebo controlled study of reduced B vitamins in patients with major depression who were positive for one or both of the common MTHFR polymorphisms was conducted between 8/1/2014 and 4/3/2015. Homocysteine levels and MADRS scores were used as primary measures. The study was designed to test safety and efficacy of reduced B vitamins in MDD associated with MTHFR. This study examines the data from the trial to see effects, effect sizes, and further, if demographic factors and other patient characteristics correlated with findings.

NCT02709668
Conditions
  1. Depression
Interventions
  1. Dietary Supplement: Enlyte
  2. Other: placebo
MeSH:Depression Depressive Disorder
HPO:Depressivity

330 adult patients with MDD (DSM-5), and positive for MTHFR C677T and/or A1298C polymorphisms were enrolled in a trial conducted between August 1, 2014, and April 3, 2015. --- C677T --- --- A1298C ---

Primary Outcomes

Description: plasma homocysteine levels measured

Measure: Homocysteine levels

Time: baseline and week 8 of study

Secondary Outcomes

Description: standard measure of depression

Measure: Montgomery Asberg Depression Rating Scale

Time: baseline, week 2, week 8

8 5-Methyltetrahydrofolate Survival and Inflammation in ESRD Patients

A randomized prospective study was done to determine whether i.v. 5-methyltetrahydrofolate vs oral folate improved survival in ESRD patients. Homocysteine, CRP, Lp(a), albumin, folates, vitamin B6 and B12 were checked. The 5-MTHF treated group was associated with lowered C reactive protein and higher survival than the folate treated group.

NCT00626223
Conditions
  1. Mortality
  2. Hyperhomocysteinemia
  3. Inflammation
Interventions
  1. Drug: 5-MTHF (5-methyltetrahydrofolate)
  2. Drug: folic acid
MeSH:Hyperhomocysteinemia Inflamm Inflammation

Gene polymorphisms analysis on C677T and A1298C loci and differences in polymorphisms distribution in both groups. --- C677T --- --- A1298C ---

Primary Outcomes

Measure: survival

Time: 55 months

Secondary Outcomes

Measure: Risk factors for cardiovascular disease in ESRD patients

Time: 55 months

Measure: Homocysteine levels after 6, 12, 24 and 55 months

Time: 55 months

Measure: CRP levels after 6, 12, 24 and 55 months

Time: 55 months

Measure: Gene polymorphisms analysis on C677T and A1298C loci and differences in polymorphisms distribution in both groups

Time: basal

Measure: Differences at baseline between the groups concerning age, dialysis age, CRP, albumin, haemoglobin, Lp(a), homocysteine, folate, B6 and B12 baseline levels

Time: basal


HPO Nodes


HP:0000716: Depressivity
Genes 461
EZR TGIF1 ND6 PROK2 COL7A1 NODAL TOR1A CACNA1G VPS35 NSUN2 GTF2IRD1 SLC20A2 CHD7 COL7A1 TACR3 SHH ST3GAL3 ARVCF NR4A2 CEP85L RREB1 AARS2 GNA11 ATXN10 FMO3 TCF4 POLG ATXN8OS AIMP1 C9ORF72 LRRK2 PSAP FGF8 CYP27A1 DCTN1 GAS1 GBA TGFBR2 PODXL FOXH1 CLIP2 VPS13C TBK1 HIRA CC2D1A GP1BB GNAS PDGFRB VAPB ABCA7 MEN1 COX1 DLL1 HARS1 SEC24C SIX3 GABRG2 ELN PIK3CA PAH POLG GNAS TWNK GNRH1 THOC2 MBOAT7 VCP PMS2 FOXH1 SLC6A4 GABRG2 POLG PDGFB CBL CDON AP2S1 GAS1 MAPT TARDBP TRNW TMEM106B MATR3 TTC19 DNAJC5 TRNL1 BCS1L CBS FRRS1L KRAS JRK GLA CDON PDGFRB SHH DISP1 PRPH ZIC2 AMACR DISP1 SLC25A4 MAN1B1 DNA2 GBA GSN FOXH1 GNRHR TDGF1 KDM5B FAN1 ADH1C VPS13A XK CEP78 TRNS1 GLI2 FGF8 TRNH ATP13A2 NEFH CSF1R COASY FMR1 ATXN8 ATXN2 FGFR1 ARSA CLCN4 USP8 TRNS2 TBC1D7 ND1 ND4 HTR2A DISP1 PANK2 STAG2 CCNF GPR101 SIX3 TRNQ PRNP ZC3H14 DCPS CISD2 HTT HNMT SLC2A3 MSH6 USH1C DNMT1 VCP ZIC2 CACNA1H MSTO1 C9ORF72 KCNJ2 HMBS MSH2 MED23 FGF8 KCNT1 PER2 SHH USH2A USH1G DRD2 PTPN22 NODAL ERBB4 PPT1 PTCH1 DAO ZIC2 TRNF CDH23 THOC2 MED25 HTT DLL1 LINS1 WASHC4 TRNS2 TUSC3 TET3 PLA2G6 MYO7A CDON CHCHD10 PSEN1 EPM2A PINK1 ARSG EPHA4 CHCHD10 CHMP2B ANOS1 CDKN1B PDZD7 MAN2B1 PTCH1 SLC45A1 DNAJC6 GLI2 PER3 ATXN10 TAF15 ADGRV1 SNCA HLA-DQB1 SLC2A1 FGF8 C19ORF12 TSC2 PRKN OPTN POLG2 MAPK1 CARS1 POLG WDR11 PDCD1 FGFR1 PPP2R2B PCDH15 FLT4 TECR SGCE DNAJC13 COQ2 B3GALNT2 RPS20 GLE1 SQSTM1 SPRY4 CACNA1G FA2H CDKN2C NHLRC1 SNCA UNC13A DGUOK CPOX TBK1 CDH23 FGF14 PFN1 PRNP MAPT CLRN1 JMJD1C RSRC1 TBX1 FBXO31 PTS EPCAM PON2 TNIK TBL2 TBX1 PDGFRB ATRX TAC3 PANK2 TARDBP FMR1 EHMT1 PRNP CLIP1 RFC2 DCTN1 SARS1 TRAPPC9 FGF14 SNCA RRM2B LIMK1 KISS1 NOTCH3 XPR1 FIG4 TWNK SIX3 CRBN GLI2 SMPD1 HLA-DQB1 CRKL PMS1 CDKN2B HTRA2 SPAST HS6ST1 PDE11A C9ORF72 MST1 SLC18A2 FGFR1 RPS6KA3 WFS1 CDON DNMT1 SRSF2 LMNB1 PRSS12 GABRB3 EDC3 POLG TRNS1 ZIC2 CLCN4 KCTD17 GBA TK2 CFAP410 MLH1 VCP COX2 GABRA1 FOXH1 PARK7 SYNJ1 COX3 EIF4G1 PON1 HNRNPA1 LRRK2 IDUA FGF8 GRIK2 POLG PRKCG NDST1 TGIF1 DUSP6 ATXN2 RRM2B SMC1A WFS1 PRNP TDGF1 TSC1 STX16 GIGYF2 ATP1A3 PTCH1 ATP1A3 HMBS GLI2 ARMC5 KCTD17 SEMA4A GLUD2 GAS1 HTT TET2 TBP GAS1 ASXL1 DMPK CASR PDGFB PRNP CIB2 UFD1 COQ2 TGIF1 GLT8D1 TREX1 VCP ARMC5 GTF2I MECP2 TWNK KISS1R LMAN2L GRIN2A PTCH1 RUNX1 ANG PIGC NSMF GNAS TWNK TDGF1 ANXA11 SGCE GCH1 FUS AIP TGIF1 BMPR1A UBQLN2 CTSF OCRL PON3 CHMP2B METTL23 ESPN CLN6 TDGF1 TRNL2 IQSEC1 TRNL1 PRKACA PRNP C9ORF72 DLL1 GRN PGAP1 GDAP2 TRNN SHH MSTO1 SIX3 SNCAIP MLH3 ND5 SRPX2 STAG2 NEK1 WHRN TBP TREM2 GNAS MMP1 C12ORF4 FMN2 PPARGC1A SQSTM1 HLA-DRB1 PINK1 ATP7B TREM2 BCR TOR1A SOD1 C9ORF72 NODAL GNAS DCTN1 PRKAR1A AFG3L2 GPR35 BAZ1B DLL1 PLA2G6 CDKN1A MAN2B1 COMT CRADD PROKR2 MAPT FUS MYO7A JPH3 NODAL FGF17 PAH UCHL1 DISP1 ATXN8OS
HP:0003119: Abnormal circulating lipid concentration
Genes 313
PSMB4 LCAT SLC37A4 BSCL2 ATAD3A UBR1 FLCN PEX3 LDLRAP1 PEX6 COL7A1 TBL1X PLVAP CAV1 SLC25A13 DHCR7 PPARG GTF2IRD1 CAVIN1 PIK3R5 MYO5A PLIN1 TRNE COL7A1 CAVIN1 RTL1 APOA1 DLK1 LEP CYP7A1 EBP PEX7 PMM2 NGLY1 LDLR CIDEC LIPE APOC3 GPD1 UCP2 SLC29A3 LMNA ABCG8 DCAF17 SPIB LMBRD1 RSPO1 ABCG5 ZMPSTE24 KCNJ11 CPT2 TRNK AEBP1 TMEM43 LEPR APOB TBL2 SYNE1 PIGT ALB LRP6 CYP27A1 PEX12 EBP RTL1 ABCA1 CTNS PNPLA2 MTTP CLIP2 APOB RFC2 LMNA NPHS2 FECH PNLIP SGPL1 PYGL LMNA LMNA LIMK1 CCT5 PEX5 CYP27A1 IL12A HSD3B7 PLIN1 APOB EMD PEX10 SMPD1 NADK2 ELN BSCL2 PSMB8 LMNB2 FARSA SLC37A4 TANGO2 AKT2 GHR DLD ACOX2 LMNA CFHR1 SLC25A20 APOC2 LPL MEF2A LIPE NUP107 TNPO3 ACTN4 PANK2 PEX16 CCDC115 MEG3 IQSEC2 GHR STXBP2 NSMCE2 CETP AGL SAR1B LMAN1 HAVCR2 PLA2G7 DEAF1 CPT2 BSCL2 NPHS1 GK GLA ABCA1 CAV1 GPIHBP1 KCNJ1 PHKG2 PHKA2 APOA2 RAI1 AGL PEX12 PPP1R17 HADH ACAD9 MEG3 STX11 ACAD8 HNF4A TRMU MTTP CETP IL12RB1 OCRL GYS2 XRCC4 APOA5 PEX19 LMNA CFH ACADVL PEX2 PEX10 TFG HMGCL SLC25A13 ALMS1 SLC25A13 APTX APOA5 ABCD1 PHKG2 NADK2 LMNA AGPAT2 LMNA DCAF17 MSMO1 LMNA ABCG5 SLC7A7 DMPK PIGH PEX26 PNPLA2 FHL1 SMPD1 TMEM199 ACADVL G6PC1 ABCA1 GTF2I CPT1A LIPA PCSK9 TDP1 ACADM PPARG RAI1 ANGPTL3 HNF1A LBR FBN1 UNC13D SCO1 SLC2A3 RAI1 PEX13 BSCL2 LIPC PHKA2 ADCY3 CAV3 TRNE CPT1A XRCC4 NSDHL LIPA CFHR3 PSMB9 PRF1 POLD1 APOC3 POLR3A NSMCE2 OCRL DHCR7 MMACHC DHCR24 ABCC8 SC5D CAV1 NPC1 POU2AF1 NUP107 SLC22A5 PEX19 MCFD2 RAB27A ALB MC4R LDLRAP1 PEX5 TDP1 CPT2 LYST JAG1 TNFSF15 TBCK SLC25A13 GALNT2 LMNA PEX5 NPC2 CIDEC ALMS1 HTT LPL SETX CYP11A1 ABCA2 DYRK1B XIAP CYP11A1 FOS ACADM PEX14 CYP19A1 MMP1 DLK1 ZMPSTE24 POLR3A AGPAT2 LCAT LDLR MMEL1 EPHX2 COG4 PEX11B SLC12A1 APOE PPARG ABHD5 AR ACAD8 LCAT ABCA1 PEX2 BAZ1B TTPA PLA2G4A TANGO2 LTC4S FLII PEX1 FDFT1 SLC52A1 CPT2 SYNE2 ABCG8 PCSK9 CEP19 PEX7 IRF5 PHYH SAR1B DGAT1 PYGL ABCD1 PEX1 TRNL1 UBE3B